Kaufman M, Pinsky L, Baird P A, McGillivray B C
Am J Med Genet. 1979;4(4):401-11. doi: 10.1002/ajmg.1320040410.
We have studied labium majus skin fibroblast strains from six unrelated, previously unreported, patients with complete androgen insensitivity (CAI). Four have markedly reduced specific 5 alpha-dihydrotestosterone-binding (DHT-binding) activity (receptor-negative). The other two (receptor-positive) have normal activities in whole-cell homogenates, the 100,000g supernatant of cell sonicates prepared in 0.4 MKCl, purified whole nuclei, and the nuclear fraction that resists extraction with 0.4 MKCl. In one of the two, the DHT-binding macromolecules in the cytosol and 0.4 M KCl-extractable nuclear fraction have normal molecular sieving profiles and binding activities. One of the receptor-positive patients has maternally related affected relatives in three successive genetations. Appreciable unexplained interexperimental variation of the DHT-binding activities in genital skin fibroblast strains demands that multiple assays be performed on a strain before its receptor status is classified quantitatively. In our experience to date with genital skin fibroblasts, four of 13 propositi with CAI have been receptor-positive.
我们研究了来自6名无亲缘关系、此前未报道过的完全雄激素不敏感（CAI）患者的大阴唇皮肤成纤维细胞系。其中4例患者的特异性5α - 双氢睾酮结合（DHT结合）活性显著降低（受体阴性）。另外2例（受体阳性）在全细胞匀浆、用0.4M KCl制备的细胞超声裂解物的100,000g上清液、纯化的全细胞核以及用0.4M KCl提取后剩余的核部分中具有正常活性。在这2例中的1例，胞质溶胶和0.4M KCl可提取核部分中的DHT结合大分子具有正常的分子筛图谱和结合活性。1例受体阳性患者在三代中有母系相关的患病亲属。生殖器皮肤成纤维细胞系中DHT结合活性存在明显无法解释的实验间差异，这就要求在对一个细胞系的受体状态进行定量分类之前，对其进行多次检测。根据我们目前对生殖器皮肤成纤维细胞的经验，13例CAI先证者中有4例为受体阳性。
